The skin biopsy will be carried out for patients with a diagnosis of Niemann Pick. The biopsy is performed by the physician by means of punch biopsy (diameter 2-3 mm) under local anesthesia, preferably on the forearm (alternatively: thigh). The biopsy is immediately transferred to sterile cell culture medium and sent by center representative for the quickest possible processing to CENTOGENE's laboratory located in Germany or to professional collaborators being part of the project.

Niemann-Pick Diseases

Centogene is one of the leading IT based laboratories focusing on genetic testing for rare hereditary disorders.

Childrens Hospital and Institute of Child Health, Ferozepur Road

Induced Pluripotent Stem Cells for Niemann Pick Disease

Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease

The aim of this study is to generate patient-specific induced pluripotent stem cells and then differentiate them into neural cells to study the misfolded proteins in endoplasmic reticulum, their role in untranslated protein response, and possible mechanisms to shuttle the misfolded proteins into lysosomes.

Centogene AG Rostock

Miglustat is administered, dose is adjusted according to Body Surface Area as below:
>1.25 : 200 mg TDS 0.88-1.25 : 200mg BID 0.73-0.88 :100mg TDS 0.47-0.73 : 100mg BID <0.47 :100mg daily

GM2 Gangliosidosis

Supportive Care

Treatment with Zavesca regimen based on body surface area as follows: SQRT [Height (cm) × Weight (kg)] / 3600 <1.25 : 200mg TDS 0.88- 1.25: 200mg BID 0.73- 0.88: 100 mg TDS 0.47- 0.73: 100 mg BID <0.47: 100 mg Daily

Miglustat

Kashan University Of Medical Sciences

Mashhad University Of Medical Sciences

Tehran University Of Medical Sciences

Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)

Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases

A total score is reported according to Pediatric Quality Of Life Inventory Infant Scales. Total score range is between 0-45 and higher values represent worse outcomes.

Tavasoli

Principal investigator

Tehran University of Medical Sciences

Mashhad University of Medical Sciences

Kashan University of Medical Sciences

Although randomized control trial is the gold standard for clinical trial studies; there are ethical concerns about placebo control group in rare diseases such as Sandhoff and Tay sachs diseases.

These patients were randomized to receive the placebo in Phase A and study drug (NAC) in Phase B of the trial

Placebo Phase A/NAC Phase B

These patients were randomized to receive study drug (NAC) in Phase A and placebo in Phase B

NAC Phase A/Placebo Phase B

Total

Sex: Female, Male

Region of Enrollment

NAC Phase

Placebo Phase

Oxysterol Levels

Overall Study

Dr. Forbes D Porter, Senior Investigator

Niemann-Pick Disease, Type C

900mg effervescent tablet; Dosed as 15 mg/kg/day (maximum dose 900 mg per day) for one week, advanced to 30 mg/kg/day (maximum dose 1800 mg per day) for the second week, and then advanced to 60 mg/kg/day (maximum dose 2700 mg) for the remainder of the trial (6 additional weeks).

N-Acetyl Cysteine

National Institutes of Health Clinical Center, 9000 Rockville Pike

Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

University of Oxford

Washington University School of Medicine

National Human Genome Research Institute (NHGRI)

Patients with a diagnosis of Niemann-Pick type C (NPC) of either sex and any ageParticipants may range from neurologically asymptomatic to severe and may have liverdisease or unrelated comorbidities, but must be stable enough to safely travel and toleratemedical evaluations.

Neimann-Pick Disease, Type C

Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C

Oxysterols such as 24S-hydroxycholesterol, 25-hydroxycholesterol, and 27-hydroxycholesterol are derived from cholesterol and play a role in cholesterol homeostasis. No data is available on endogenous oxysterol levels in NPC patients. We plan to measure oxysterol levels in both serum and CSF and correlate these levels with disease status and progression.

pick disease of the brain/seizures

Induced Pluripotent Stem Cells for Niemann Pick Disease

Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)

Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine

Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C

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