Recruiting Studies

Below is a list of our actively recruiting studies and clinical trials. If you're interested in participating, please register through our site here.

NPC GM1 GM2: AZ-3102 (AZA-001-301)

Short Summary:

This Phase 3 clinical trial is evaluating the safety and effectiveness of an investigational oral medication called nizubaglustat (AZ-3102) for children and young people living with certain rare genetic conditions, including Niemann-Pick type C disease, GM1 gangliosidosis, and GM2 gangliosidosis. The study will take place over approximately 18 months and will compare nizubaglustat to a placebo to better understand how the treatment may help manage these conditions.

Who May Qualify:

You or your child may qualify for this study if you:

Are 4 years of age or older
Have a confirmed diagnosis of Niemann-Pick type C (NPC), GM1 gangliosidosis, or GM2 gangliosidosis
Are unable or unwilling to take miglustat
Have genetic testing results confirming the diagnosis through disease-causing genetic variants identified by the study team

Contacts:

Additional Information:

Please see the clinical trials page at clinicaltrials.gov

Noonan Syndrome: BMN111-211

Short Summary:

This Phase 2 clinical trial is studying an investigational medication called vosoritide in children with Noonan syndrome who have experienced limited growth during or after treatment with human growth hormone (hGH). Researchers are evaluating the safety of different dosing options and how well the medication may help support growth, including its potential impact on final adult height.

Who May Qualify:

Your child may qualify for this study if they:

Are between 3 and 11 years old (girls) or 3 and 12 years old (boys)
Have a confirmed diagnosis of Noonan syndrome
Are shorter than expected for their age and sex and have experienced limited growth despite current or previous growth hormone treatment
Have not yet started puberty at the time of study enrollment

Contacts:

Additional Information:

Please see the clinical trials page at clinicaltrials.gov

Gaucher: FLT201

Short Summary:

This Phase 3 clinical trial is studying an investigational treatment called FLT201 in adults living with Gaucher disease Type 1 who have been stable on enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) for at least 2 years. Researchers are evaluating how safe and effective FLT201 may be after participants stop their current Gaucher disease treatment.

Who May Qualify:

• Individuals diagnosed with Gaucher disease Type 1
• Have been receiving enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) consistently for at least 2 years
• Have stable blood counts, including hemoglobin and platelet levels, at the time of screening

Contacts:

Additional Information:

Please see the clinical trials page at clinicaltrials.gov

Barth Syndrome: SPIBA-401

Short Summary:

This is a phase 3 clinical trial is testing an investigational drug called elamipretide, which is a daily injection, can help improve strength, walking ability, and overall physical function in people with Barth syndrome. Participants will receive either elamipretide or a placebo for about 72 weeks.

Who May Qualify:

You may be eligible if you:

Are male and at least 5 years old
Have a genetically confirmed diagnosis of Barth syndrome (TAZ gene mutation)
Have adequate heart function as determined by study testing
Are willing to attend study visits and follow study requirements
Are able to self-administer the study medication or have a caregiver who can help administer it

Contacts:

Additional Information:

Please see the clinical trials page at clinicaltrials.gov

Additional Recruiting Studies

Below you can view additional recruiting studies from other organizations:

17q12 CNVs Study

Learn About PRISMA's study at the University of Alberta

Learn More

Individuals diagnosed with 17q12 CNVs (both the duplication and the deletion)

Between the ages of 6 months and 90 years

Fully remote

Recruiting internationally

The overarching goal of the study is to develop a medical and psychiatric blueprint for those who are diagnosed with 17q12 CNVs (both the duplication and the deletion), which can be used to create precision medicine approaches in the future. This study is REB approved through the University of Alberta and takes approximately 6 hours to complete, broken down over multiple smaller sessions. It is designed to be fully remote, with medical and family history interviews completed over zoom. Learn more on PRISMA's website.

Now Enrolling:

PALomino Pregnancy Observational Safety Study

Learn More: Patients

Learn More: Physicians

PALomino is a global observational safety study sponsored by BioMarin Pharmaceutical Inc. to assess maternal, fetal, and infant outcomes in women exposed to Pegvaliase during pregnancy and breastfeeding. You may qualify for the study if you have taken Pegvaliase at any time during your pregnancy.

Recruiting Studies

NPC GM1 GM2: AZ-3102 (AZA-001-301)

Short Summary:

Who May Qualify:

Contacts:

Additional Information:

PKU: Palynziq Registry (Biomarin 165-504)

Learn more about one of our latest studies Pegvaliase: a global, multicenter study to assess maternal, fetal and infant outcomes of exposure to Palynziq® (pegvaliase) during pregnancy and breastfeeding. Read more about the study on the M.A.G.I.C. Clinic's website.

Noonan Syndrome: BMN111-211

Short Summary:

Who May Qualify:

Contacts:

Additional Information:

Pompe Registry

Register on our site to learn more.

Fabry: CFDI Registry

Register on our site to learn more.

Gaucher Registry

Register on our site to learn more.

Fabry Registry

Register on our site to learn more.

Gaucher: FLT201

Short Summary:

Who May Qualify:

Contacts:

Additional Information:

Barth Syndrome: SPIBA-401

Short Summary:

Who May Qualify:

Contacts:

Additional Information:

Below you can view additional recruiting studies from other organizations:

Individuals diagnosed with 17q12 CNVs (both the duplication and the deletion)

Between the ages of 6 months and 90 years

Fully remote

Recruiting internationally

PALomino is a global observational safety study sponsored by BioMarin Pharmaceutical Inc. to assess maternal, fetal, and infant outcomes in women exposed to Pegvaliase during pregnancy and breastfeeding. You may qualify for the study if you have taken Pegvaliase at any time during your pregnancy.

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