Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease

NCT ID: NCT02089724

Last Updated: 2016-10-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-03-31

Study Completion Date

2019-04-30

Brief Summary

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Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. Diagnosis of ECD is based on clinical symptoms, imaging and histology with infiltration of tissues by foamy CD68 positive CD1a negative histiocytes.

Because half of the ECD patients carry a BRAFV600E mutation, we recently proposed vemurafenib, an inhibitor of mutant BRAF, as a possible targeted therapy. We have treated more than10 patients with refractory ECD with life-threatening manifestations associated with the BRAFV600E mutation and observed a short and long term efficacy.

However, vemurafenib may have several side effects and long term administration of this drug has not been evaluated. In other diseases such as melanoma, duration of administration is usually shorter, due to bad prognosis of the disease and progression despite treatment.

As in long-term follow-up, ECD patients with vemurafenib seem to have a stable disease, we want to evaluate the possibility of treatment interruption as this is what we do in our current practice. Other BRAF inhibitors, such as dabrafenib, have recently been proposed for treating BRAF mutated histiocytoses. Other BRAF inhibitor interruption treatment should also be prospectively evaluated.

Detailed Description

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Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. Diagnosis of ECD is based on clinical symptoms, imaging and histology with infiltration of tissues by foamy CD68 positive+ CD1a negative histiocytes. The clinical course mainly depends on the extent and distribution of the disease, and ranges from asymptomatic bone lesions to life-threatening manifestations. The overall mortality remains high (22% of the 100 ECD patients seen at our institution in August 2013).

Due to the rare nature of the disease (500 cases worldwide have been reported since 1930) no prospective therapeutic trial has been performed. Interferon alpha (IFN alpha), in its standard or pegylated forms, is the first line therapy for ECD. However, long-term IFN alpha treatment can lead to severe side effects. Moreover, some patients with CNS and/or cardiovascular infiltrations, the two lethal organ involvement, develop secondary resistance to high doses of IFN alpha. For refractory patients, anakinra, cladribine, tyrosine kinase inhibitors, or infliximab have been proposed as second line treatments. The optimal second line therapeutic strategy remains however to be defined, mostly because these treatments have been evaluated in only small numbers of patients.

Because half of the ECD patients carry a BRAFV600E mutation, we recently proposed vemurafenib, an inhibitor of mutant BRAF, as a possible targeted therapy. We have treated 10 patients with refractory ECD with life-threatening manifestations associated with the BRAFV600E mutation and observed a short and long term efficacy (median follow-up 9 months).

However, vemurafenib may have several side effects and long term administration of this drug has not been evaluated. In other diseases such as melanoma, duration of administration is usually shorter, due to bad prognosis of the disease and progression despite treatment.

As in long-term follow-up, ECD patients with vemurafenib seem to have a stable disease, we want to evaluate the possibility of treatment interruption as this is what we do in our current practice. Other BRAF inhibitors, such as dabrafenib, have recently been proposed for treating BRAF mutated histiocytoses.

Conditions

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Erdheim-Chester Disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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vemurafenib/other BRAF inhibitors

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Age superior or equal to 18 years
* Clinical and radiological presentation concordant with ECD
* Presence of histological proof of ECD
* Treatment with vemurafenib or other BRAF inhibitor
* Agreement to participate

Exclusion Criteria

* Pregnancy
* Patients who exceed the safe weight limit of the PET/CT bed (220 kg) or who cannot fit through the PET/CT bore (diameter 70 cm).
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Memorial Sloan Kettering Cancer Center

OTHER

Sponsor Role collaborator

Groupe Hospitalier Pitie-Salpetriere

OTHER

Sponsor Role lead

Responsible Party

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Dr Cohen Aubart

Dr Cohen Aubart

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Julien Haroche, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Groupe Hospitalier Pitié-Salpêtrière

Fleur Cohen Aubart, MD, PhD

Role: STUDY_DIRECTOR

Groupe Hospitalier Pitié-Salpêtrière

Eli L. Diamond, MD, PhD

Role: STUDY_CHAIR

Memorial Sloan Kettering Cancer Center

Locations

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Memorial Sloan Kettering Cancer Center

New York, New York, United States

Site Status RECRUITING

AP-HP, Groupe Hospitalier Pitié-Salpêtrière

Paris, , France

Site Status RECRUITING

Countries

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United States France

Central Contacts

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Julien Haroche, MD, PhD

Role: CONTACT

Phone: +33 1 42 17 80 37

Email: [email protected]

Fleur Cohen Aubart, PD, PhD

Role: CONTACT

Phone: +33 1 42 17 82 42

Email: [email protected]

Facility Contacts

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Eli L. Diamond, MD, PhD

Role: primary

Julien Haroche, MD, PhD

Role: primary

Fleur Cohen Aubart, MD, PhD

Role: backup

References

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Haroche J, Arnaud L, Cohen-Aubart F, Hervier B, Charlotte F, Emile JF, Amoura Z. Erdheim-Chester disease. Curr Rheumatol Rep. 2014 Apr;16(4):412. doi: 10.1007/s11926-014-0412-0.

Reference Type BACKGROUND
PMID: 24532298 (View on PubMed)

Haroche J, Cohen-Aubart F, Emile JF, Arnaud L, Maksud P, Charlotte F, Cluzel P, Drier A, Hervier B, Benameur N, Besnard S, Donadieu J, Amoura Z. Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation. Blood. 2013 Feb 28;121(9):1495-500. doi: 10.1182/blood-2012-07-446286. Epub 2012 Dec 20.

Reference Type BACKGROUND
PMID: 23258922 (View on PubMed)

Haroche J, Charlotte F, Arnaud L, von Deimling A, Helias-Rodzewicz Z, Hervier B, Cohen-Aubart F, Launay D, Lesot A, Mokhtari K, Canioni D, Galmiche L, Rose C, Schmalzing M, Croockewit S, Kambouchner M, Copin MC, Fraitag S, Sahm F, Brousse N, Amoura Z, Donadieu J, Emile JF. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012 Sep 27;120(13):2700-3. doi: 10.1182/blood-2012-05-430140. Epub 2012 Aug 9.

Reference Type BACKGROUND
PMID: 22879539 (View on PubMed)

Other Identifiers

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medint001

Identifier Type: -

Identifier Source: org_study_id