Study to Assess Safety and Efficacy of Fingolimod in Children With Rett Syndrome

NCT02061137 | Completed Phase 1 DMC

• 1 other identifier: CFTY720D2201T
• Study Type: interventional
• Target: 6
• Locations: 1 country
• Sites: 1

Brief Summary

The Trial Objective is to assess safety and efficacy of oral fingolimod (FTY720) in children older than 6 years with Rett Syndrome. So far there is no established treatment for children with Rett Syndrome. Therefore a positive result in terms of safety and first indications of efficacy would path the way to a phase II clinical study with more patients to further test the hypothesis that fingolimod treatment may slow down the regression of motor and language skills.

Conditions

Rett's Syndrome

Keywords

Rett Syndrome (Mecp2 positive); Fingolimod (FTY 720); BDNF; Brain Atrophy

Outcome Measures

Primary Outcomes (1)

• Levels of Brain derived neurotrophic factor (BDNF) in blood and cerebrospinal fluid before and under treatment

  change of BDNF measured at Baseline, at first dose, at 6 and at 12 months after start of treatment.

Study Arms (1)

Rett syndrome, fingolimod (FTY720)

EXPERIMENTAL

0.5 or 0.25mg Fingolimod daily

Drug: fingolimod (FTY720)

Interventions

fingolimod (FTY720) DRUG

0.5 or 0.25 mg fingolimod orally daily for each of 6 patients with rett syndrome for 12 months

Also known as: gilenya, fingolimod, FTY720

Rett syndrome, fingolimod (FTY720)

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Children fulfilling diagnostic criteria (2001, Hagberg B et al. Eur. J. Paediatr. Neurol. 2002) of Rett Syndrome
• Stages II -IV Hagberg/ Witt-Engerström (Hagberg B, Witt-Engerström I. Am J Med Genet 1986, Hagberg B. Ment Retard Dev Disabil Res Rev 2002)
• Patients older than 6 years old (have had their 6th birthday)
• Written informed consent of parents/ of legal guardian
• Negative testing for pregnancy
• Positive confirmation of a MECP2 mutation

You may not qualify if:

• Any uncertainty about diagnosis of Rett Syndrome
• Patients younger than 6 years old (have not yet had their 6thbirthday)
• Additional associated neurological diseases such as a brain malformation
• Patient \<15kg body weight at timepoint of screening
• Patients with negative varicella-zoster virus immunoglobulin G (IgG) antibodies
• Pregnancy or breastfeeding for girls in childbearing potential age

Sponsors & Collaborators

• University Hospital, Basel, Switzerland: lead
• Novartis: collaborator

Study Sites (1)

Department of Neuropediatrics - University Children's Hospital

Basel, 4056, Switzerland

Location

Related Publications (1)

• Naegelin Y, Kuhle J, Schadelin S, Datta AN, Magon S, Amann M, Barro C, Ramelli GP, Heesom K, Barde YA, Weber P, Kappos L. Fingolimod in children with Rett syndrome: the FINGORETT study. Orphanet J Rare Dis. 2021 Jan 6;16(1):19. doi: 10.1186/s13023-020-01655-7.

  PMID: 33407685 DERIVED

MeSH Terms

Conditions

Rett Syndrome

Interventions

Fingolimod Hydrochloride

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System

Intervention Hierarchy (Ancestors)

Sphingosine; Amino Alcohols; Alcohols; Organic Chemicals; Propylene Glycols; Glycols; Amines

Study Officials

• Ludwig Kappos, Prof.

  Department of Neurology - University Hospital Basel - Switzerland

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 27, 2013
• First Posted: February 12, 2014
• Study Start: August 1, 2013
• Primary Completion: April 1, 2018
• Study Completion: April 1, 2018
• Last Updated: June 15, 2018

Record last verified: 2018-06

Locations

CH (1)