Little Girl Gets Miraculous New Genetic Treatment— How She’s Thriving At Age 7 After Doctors Initially Gave Her No Chance

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Shabbir was born with a rare genetic condition called Wolman’s Disease, also known as acid lipase deficiency), which could cause multi-organ failure and be fatal in infancy. The NIH describes as being “marked by the buildup of cholesteryl esters (normally a transport form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body).”

“Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration and low muscle tone, as well as an enlarged liver, grossly enlarged spleen, calcium deposits in the adrenal glands, and gastrointestinal and other problems. The disease is usually fatal by age 1,” the NIH adds.

However, in Shabbir’s case, she was given a “world first”  recombinant enzyme replacement therapy called Sebelipase alfa, the young girl has surpassed doctors initial expectations.

Girl with rare disease 'thriving' after therapy https://t.co/obbziinLLX

— BBC News (UK) (@BBCNews) January 16, 2024

“No child with this condition had previously survived beyond six months of age before this new treatment was developed. Now, children can be expected to have normal development and their life expectancy is likely to be the comparable to that of the general population,” an article published by Birmingham Women’s and Children’s NHS Foundation Trust.

Looking back on when her daughter was first diagnosed, Shabbir’s mom Amber Khan told the foundation, “When Inaaya was diagnosed it felt like my whole world was breaking down. When I had her, I’d already had a son who was healthy and there was less than two years between them, so I didn’t know what was going wrong, but after a week I noticed her belly was big, but her arms and legs were small.

“When we were on the hospital ward, a kind member of staff spoke to me and I told her about Inaaya’s three aunties on her father’s side who all passed away from the same disease. She said she would check the notes and see what that was, which is how they found out.”

She continued, “She came back and told me she had Wolman’s and to not look at it online. I did and told my mom, all it talked about was death. I was scared. The team took Inaaya for a blood transfusion and I was told I’’ get a call from a consultant at the Children’s Hospital. Dr Santra called and talked me through the treatment. I could either take her to try the treatment or take her home and let nature take its course. She started treatment after a few days.”

Dr Suresh Vijay, Consultant of Clinical Paediatric Inherited Metabolic Disorders at Birmingham Women’s and Children’s NHS foundation Trust, also spoke with the foundation Trust about the new therapy, explaining, “Until around 2014 there was no treatment at all for Wolman’s and all affected babies would show symptoms in their first few weeks to months of life. Sadly, none would survive longer than three or four months old.

“Now we have children who are living around Inaaya’s age and older, so it has been a huge development. The enzyme these children lack helps break down fat, which is what causes the liver and spleen to enlarge. They get it replaced through a drip for around two to four hours once a week, so they go on to have a good quality of life.”

As Shabbir’s mom Amber noted how the oldest child in the world living with the same condition as her daughter is only 13 years old, however, she insistes, “Inaaya is doing well on it. She literally lives a normal life. She is so amazing, nothing can phase her. She is so selfless, she can’t eat chocolate and sweets, but she would happily give sweets out to everyone in her class, even knowing she can’t have it. I’m so lucky to have her.

“The Children’s Hospital is the best hospital in the world for me, there’s nothing they won’t do for you. If she didn’t have this drug, I don’t know what would happen. I’m so happy she is as well as she is.”

Understanding Enzyme & Gene Therapies

According to the National Institute of Health, sebelipase alfa, the infusion treatment Shabbir is receiving, is type of enzyme replacement therapy, which is used long-term in all ages with lysosomal acid lipase (LAL) deficiency.

Infusion Associates describes enzyme replacement therapy (ERT) as “a medical treatment whereby replacement enzymes are given to patients who suffer from chronic conditions resulting from enzyme deficiencies or malfunction.”

“The most common method of ERT is through IV infusions, in which the replacement enzyme is administered directly into the bloodstream through a controlled drip of fluids,” Infusion Associated explains.

“Replacement enzymes for ERT are derived from human, animal, and plant cells that are then genetically modified and processed before being given to the patient. By receiving these enzyme replacements, the body is able to successfully perform the functions inhibited by the deficiency. The effectiveness of ERT varies from person to person and what is being treated, but in some cases it is the only available treatment option.”

Meanwhile, other rare diseases are treated with gene therapy, “a technique that modifies a person’s genes to treat or cure disease,” the FDA explains.

Gene therapy can work in the following ways:

• Replacing a disease-causing gene with a healthy version of the gene
• Inactivating a disease-causing gene that is isn’t working normally
• Introducing a new or modified gene into a patient’s body to assist in treating a disease

The FDA notes that gene therapy products are being studied to treat cancer, genetic diseases, and infectious diseases.

There are a variety of types of gene therapy products, including: plasmid DNA, viral vectors, bacterial vectors, human gene editing technology, and patient-derived cellular gene therapy products.

Why I’d Choose a Clinical Trial For Myself

As for the benefits of genetic therapies, the National Heart, Lung, and Blood Institute (NHLBI) says, “In the future, genetic therapies may be used to prevent, treat, or cure certain inherited disorders, such as cystic fibrosis, alpha-1 antitrypsin deficiency, hemophilia, beta thalassemia, and sickle cell disease. They also may be used to treat cancers or infections, including HIV.

“Genetic therapies that are currently approved by the FDA are available for people who have Leber congenital amaurosis, a rare inherited condition that leads to blindness. CAR T-cell therapyexternal link is FDA approved for people who have blood cancers, such as acute lymphoblastic leukemia (ALL)external link and diffuse large B-cell lymphoma.”

Have a Rare Disease? Here are Some Resources

All sorts of feelings of anxiety, fear, and loneliness can come with the diagnosis of a rare disease. But it’s important to know you’re not alone. Below are some helpful resources for the many people affected by lesser-known or less-researched diseases.

Academic Centers and Comprehensive Care Centers

For some rare disease warriors, community centers provide great treatment options. But for people with rare conditions, cancer or otherwise, more specialized care may be required. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers.

In a previous conversation with SurvivorNet, Dr. Kenneth Miller, director of outpatient oncology at the University of Maryland’s comprehensive cancer center, explained what differentiates a comprehensive cancer center from other treatment providers.

Seeking Care at a Comprehensive Cancer Center

“Pretty much automatically, there’s going to be a team approach [to your care],” Dr. Miller said. “Surgical oncology, medical oncology, radiation oncology, and all the support services- and also wonderful pathology and radiology.”

Dr. Miller added that at a comprehensive cancer center, all of these different specialists work together as a team to help you find the best course of treatment for your specific kind of cancer.

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“We call it a tumor board, a group to go through all the details of your case, so you get a group of very smart people coming up with a plan together that is hopefully optimal and gives you the best chance of doing well.”

Clinicaltrials.gov and the SurvivorNet Clinical Trial Finder

Another place to turn to when you’ve been diagnosed with a rare disease and you’re considering experimental treatment, or trying to find specialists, is clinicaltrials.gov – a database maintained by the U.S. government that compiles privately and publicly funded clinical trials conducted around the world.

Clinical trials themselves are research studies that compare the most effective known treatment for a specific type or stage of a disease with a new approach.

Clinical Trials Can be Life-Saving for Some

Clinicaltrials.gov can help you explore possible treatment options by looking at trials that are actively recruiting. The site also provides the information of some of the most specialized doctors in a specific field since they often end up leading clinical trials that advance our understanding of diseases.

By searching your disease on Clinicaltrials.gov, you will usually come across a list of many studies. The lead researcher will be listed under the heading, “Investigators.” Lead researchers in studies on rare diseases are typically doctors who have specialized in the study of that condition.

And if you’d prefer to search for clinical trials on a more user-friendly site, try SurvivorNet’s new A.I. driven tool built on top of clinicaltrials.gov: the SurvivorNet Clinical Trial Finder. This tool is updated daily and gives users access to more than 100,000+ individual clinical trials to help them find treatment options.

To use the SurvivorNet Clinical Trial Finder, simply answer some basic questions using our custom-designed chat feature and we’ll send clinical trial options within your region right to your email. In simplifying the search, we hope to offer multiple opportunities for clinical trial sponsors and clinical research organizations to engage with patients.

“Clinical trials are critical to the development of new therapies, and as we live through this extraordinary revolution in genomics, immunotherapy and targeted therapy, it’s clear that one of the most pressing needs for patients, clinical trials sponsors, and researchers is simply a better way to find patients,” SurvivorNet CEO Steve Alperin said. “Even one percent more people successfully enrolled in clinical trials can change the world.”

PubMed

Similar to clinicaltrials.gov, PubMed is another place to turn if you’re looking to research your rare disease. This website includes more than 33 million citations for biomedical literature from MEDLINE, life science journals, and online books.

If you type in your disease, you’ll see a list of studies and articles about the condition. You can even add a filter to only look at clinical trial information.

By looking at the doctors associated with the published clinical trial results and other articles, you may be able to find doctors that specialize in research for your disease.

Newly-Developed Drugs

For those who’ve been recently diagnosed with a rare disease, we also want to highlight reasons for hope since there is something of a revolution going on in the development of drugs for rare diseases.

The sequencing of the human genome has enabled doctors to take new approaches to treating some of these uncommon conditions. One step you may take after being diagnosed with a rare disease is looking into the drug companies developing drugs to treat your condition.

Compassionate Use and Off-Label Use

Drug companies may be able to help patients enroll in clinical trials, and in some rare cases, they may even be able to offer “compassionate use.” Compassionate drug use makes a new drug that has not been fully approved available to a patient facing a serious illness. This only typically happens when a patient has exhausted all other treatment options, but it is an important option to understand.

Similarly, researching drug companies may be a path to “off-label” drug use. Off-label drug use involves taking a drug that has been approved for treating one condition in the hopes that it may treat another condition that it has not yet been approved for.

New Guidelines On Drug Development Programs For Rare Diseases

Rare disease sufferers like Inaaya Shabbir, have yet another reason to be hopeful for as the US Food and Drug Administration (FDA) recently issued a finalized guidance on drug development programs for rare diseases.

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The final guidance was issued on Dec. 26, 2023 and works to help orphan drug sponsors. Regulatory Focus explains the guidance entails information on “nonclinical pharmacology and toxicology, trial design and endpoint selection, the evidence standard for establishing safety and effectiveness, and drug manufacturing issues.”

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Agency officials explained in the final guidance, “The purpose of this guidance is to assist sponsors of drugs for the treatment of rare diseases in conducting efficient and successful drug development programs. The statutory requirements for marketing approval for drugs to treat rare and common diseases are the same and issues discussed in this guidance are encountered in other drug development programs.

“These issues are frequently more difficult to address in the context of a rare disease for which there is often limited medical and scientific knowledge, poorly understood natural history data, sample size constraints, and lack of drug development experience.”

The officials continued, “Many rare diseases are serious conditions with no approved treatments, leaving substantial unmet medical need for patients. FDA recognizes that rare diseases are highly diverse with varying prevalence, rates of progression, and degrees of heterogeneity that can affect both clinical manifestations and disease courses even within a condition.

“Further complexity is added depending on what is known about a disease’s natural history and pathophysiology. As such, no one program can be designed exactly like another. FDA is committed to helping sponsors create successful drug development programs that address the particular challenges posed by each disease and encourages sponsors to engage early with the Agency to discuss their drug development program.”

With regard to additional considerations related to clinical development for rare disease, officials write that the FDA welcomes sponsors of drugs to “discuss their overall plans for maximizing the quantity and quality of safety and efficacy data in early drug development meetings with FDA,” which may include the following approaches:

• Decentralized clinical investigations
• Natural history
• Clinical investigation eligibility
• Dose selection
• Comparator arm
• Clinical investigation conduct and data quality
• Auxiliary cohorts

Leading Experts Urge Us to Be Proactive

“If I had any advice for you following a cancer diagnosis, it would be, first, to seek out multiple opinions as to the best care,” National Cancer Institute Chief of Surgery Steven Rosenberg told us in a previous interview, “because finding a doctor who is up to the latest of information is important.”

As we highlight in several areas of SurvivorNet, highly respected doctors sometimes disagree on the right course of treatment, and advances in genetics and immunotherapy are creating new options. Also, in some instances the specific course of treatment is not clear cut. That’s even more reason why understanding the potential approaches to your disease is crucial.

At the National Cancer Institute, there is a patient referral service that will “guide patients to the right group depending on their disease state so that they can gain access to these new experimental treatments,”Rosenberg says.

Cancer Research Legend Urges Patients to Get Multiple Opinions

Furthermore, getting another opinion may also help you avoid doctor biases. For example, some surgeons own radiation treatment centers. “So there may be a conflict of interest if you present to a surgeon that is recommending radiation because there is some ownership of that type of facility,” Dr. Jim Hu, director of robotic surgery at Weill Cornell Medical Center, tells SurvivorNet.

Bottom line, being proactive about your health could be a matter of life or death. Learn as much as you can from as many experts as you can, so that you know that you did your best to take control of your health.

Contributing: SurvivorNet Staff

Learn more about SurvivorNet's rigorous medical review process.

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